Departments of, Department of, Dermatology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), Beijing, China.
Department of, Pathology, Beijing Children's Hospital, Capital Medical University (National Center for Children's Health, China), Beijing, China.
Clin Exp Dermatol. 2020 Aug;45(6):719-721. doi: 10.1111/ced.14193. Epub 2020 Apr 10.
Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.Gly533Metfs*82) in exon 7 (V2 tail domain) of KRT1, which, by replacing the glycine-serine-rich tail of KRT1 with a series of 75 alanine-rich amino acids, produces a mild IHCM phenotype. The patient with the mutation presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no history of blistering.
板层状鱼鳞病，Curth-Macklin 型（IHCM）是一种极其罕见的常染色体显性皮肤病，由角蛋白基因 KRT1 或 KRT10 的突变引起，其常表现为广泛的、深色的、棘状或疣状斑块和严重的手掌足底角化过度症。我们报道了一种新的移码截断突变，c.1596_1597insAT（p.Gly533Metfs*82），位于 KRT1 的外显子 7（V2 尾巴结构域），通过用一系列 75 个富含丙氨酸的氨基酸取代 KRT1 的甘氨酸-丝氨酸丰富的尾巴，产生了一种轻度的 IHCM 表型。携带该突变的患者表现为局限性鱼鳞病和手掌足底进行性角化过度，但无水疱形成的病史。
